Table 4.
Correlations between phenotypical core features and aCGH results (pathogenic CNVs vs likely pathogenic CNVs vs likely benign CNVs)
| pathogenic (N = 70) |
likely pathogenic (N = 50) |
likely benign (N = 105) |
p value | ||||
|---|---|---|---|---|---|---|---|
| Number | Percent | Number | Percent | Number | Percent | ||
| NDD | 2 | 2.86 | 12 | 24 | 38 | 36.19 | < 0.00001 |
| Dysmorphism(s) | 0 | 0.00 | 1 | 2 | 1 | 0.95 | NA |
| MCA | 5 | 7.14 | 1 | 2 | 8 | 7.62 | 0.371509 |
| Epilepsy | 0 | 0.00 | 2 | 4 | 1 | 0.95 | NA |
| NDD + Dysmorphism(s) | 25 | 35.71 | 13 | 26 | 15 | 14.29 | 0.004246 |
| NDD + MCA | 10 | 14.29 | 8 | 16 | 12 | 11.43 | 0.70822 |
| NDD + epilepsy | 1 | 1.43 | 4 | 8 | 9 | 8.57 | 0.13395 |
| NDD + dysmorphism(s) + MCA | 12 | 17.14 | 4 | 8 | 10 | 9.52 | 0.20385 |
| NDD + dysmorphism(s) + epilepsy | 2 | 2.86 | 1 | 2 | 1 | 0.95 | 0.640556 |
| NDD + MCA + epilepsy | 4 | 5.71 | 2 | 4 | 3 | 2.86 | 0.823368 |
| NDD + dysmorphism(s) + MCA + epilespy | 2 | 2.86 | 0 | 0 | 0 | 0.00 | NA |
| Dysmorphism(s) + MCA | 5 | 7.14 | 2 | 4 | 4 | 3.81 | 0.573256 |
| Dysmorphism(s) + epilepsy | 0 | 0.00 | 0 | 0 | 0 | 0.00 | NA |
| MCA + epilepsy | 2 | 2.86 | 0 | 0 | 2 | 1.90 | NA |
| Dysmorphism(s) + MCA + epilepsy | 0 | 0.00 | 0 | 0 | 0 | 0.00 | NA |
| Other | 0 | 0.00 | 0 | 0 | 1 | 0.95 | NA |
MCA multiple congenital anomalies, NDD neurodevelopmental disorders
Results significant for likely benign CNVs (bold); results significant for pathogenic CNVs (bold and italic)